Owczarek E, Emeryk-Szajewska B, Strugalska-Cynowska M
Kliniki Neurologicznej AM., Warszawie.
Neurol Neurochir Pol. 1994 May-Jun;28(3):419-24.
Three cases are presented of familial myasthenia gravis: two sisters and their cousin. Healthy members of this family were also examined. Myasthenia gravis was diagnosed on the ground of the clinical and electrophysiological examination (decrement test and SF EMG with jitter evaluation) as well as of the immunological tests (anti AChR antibodies and HLA antigens B8, DR3). Several healthy relatives of myasthenic patients had HLA B8 and DR3 antigens and/or presented neuromuscular transmission disturbances detected on SF EMG examination. Occurrence of myasthenia in two or more members of a family can be a risk factor for the remaining members.
两姐妹及其堂妹。对该家族的健康成员也进行了检查。基于临床和电生理检查(递减试验以及带有颤抖评估的单纤维肌电图)以及免疫学检查(抗乙酰胆碱受体抗体和人类白细胞抗原B8、DR3)确诊为重症肌无力。重症肌无力患者的几位健康亲属具有人类白细胞抗原B8和DR3抗原,和/或在单纤维肌电图检查中发现神经肌肉传递障碍。一个家族中两名或更多成员患有重症肌无力可能是其余成员的一个风险因素。